OR2AP1

Summary

OR2AP1 (olfactory receptor family 2 subfamily AP member 1, HGNC:15335) is a protein-coding gene on chromosome 12q13.2, encoding Olfactory receptor 2AP1 (Q8NGE2). Odorant receptor.

Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome.

Source: NCBI Gene 121129 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• MANE Select transcript: NM_001258285

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15335
Approved symbol	OR2AP1
Name	olfactory receptor family 2 subfamily AP member 1
Location	12q13.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000179615
Ensembl biotype	protein_coding
Entrez	121129

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000641114

RefSeq mRNA: 1 — MANE Select: NM_001258285 NM_001258285

CCDS: CCDS58241

Canonical transcript exons

ENST00000641114 — 2 exons

Exon	Start	End
ENSE00003812095	55572468	55572622
ENSE00003814290	55574220	55575612

Expression profiles

Bgee: expression breadth tissue_specific, 1 present calls, max score 89.73.

Top tissues by expression

128 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.73	gold quality
ganglionic eminence	UBERON:0004023	38.84	gold quality
bone marrow cell	CL:0002092	38.74	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
apex of heart	UBERON:0002098	35.90	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
bone marrow	UBERON:0002371	33.06	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.35	gold quality
monocyte	CL:0000576	28.91	gold quality
leukocyte	CL:0000738	28.79	gold quality
duodenum	UBERON:0002114	28.14	gold quality
liver	UBERON:0002107	28.04	gold quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
placenta	UBERON:0001987	25.81	gold quality
urinary bladder	UBERON:0001255	25.72	gold quality
muscle of leg	UBERON:0001383	24.96	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
frontal cortex	UBERON:0001870	24.10	gold quality
superior frontal gyrus	UBERON:0002661	24.08	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	2.79

Regulation

Is transcription factor: no

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or6c8b	ENSMUSG00000056853
mus_musculus	Or6c8	ENSMUSG00000059762
rattus_norvegicus	OR6c8	ENSRNOG00000043334

Paralogs (18): OR6F1 (ENSG00000169214), OR6C4 (ENSG00000179626), OR6C2 (ENSG00000179695), OR6T1 (ENSG00000181499), OR6S1 (ENSG00000181803), OR6C70 (ENSG00000184954), OR6C76 (ENSG00000185821), OR6C75 (ENSG00000187857), OR6C6 (ENSG00000188324), OR6M1 (ENSG00000196099), OR6C74 (ENSG00000197706), OR6C68 (ENSG00000205327), OR6C65 (ENSG00000205328), OR6C3 (ENSG00000205329), OR6C1 (ENSG00000205330), OR6X1 (ENSG00000221931), OR6V1 (ENSG00000225781), OR6J1 (ENSG00000255804)

Protein

Protein identifiers

Olfactory receptor 2AP1 — Q8NGE2 (reviewed: Q8NGE2)

Alternative names: Olfactory receptor OR12-9

All UniProt accessions (2): Q8NGE2, A0A126GVS5

UniProt curated annotations — full annotation on UniProt →

Function. Odorant receptor.

Subcellular location. Cell membrane.

Similarity. Belongs to the G-protein coupled receptor 1 family.

RefSeq proteins (1): NP_001245214* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain
IPR047132	Olfact_rcpt_6C-like	Family

Pfam: PF13853

UniProt features (19 total): topological domain 8, transmembrane region 7, glycosylation site 2, chain 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGE2-F1	89.32	0.66

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (1): 95–187

Glycosylation sites (2): 3, 87

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9752946	Expression and translocation of olfactory receptors

MSigDB gene sets: 16 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, GOMF_OLFACTORY_RECEPTOR_ACTIVITY, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, GOMF_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY, GOBP_SENSORY_PERCEPTION_OF_SMELL, GOBP_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, GOBP_DETECTION_OF_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION, SRSF9_TARGET_GENES, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS, GOMF_MOLECULAR_TRANSDUCER_ACTIVITY, chr12q13

GO Biological Process (4): signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186), sensory perception of smell (GO:0007608), detection of chemical stimulus involved in sensory perception of smell (GO:0050911)

GO Molecular Function (2): G protein-coupled receptor activity (GO:0004930), olfactory receptor activity (GO:0004984)

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Olfactory Signaling Pathway	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transmembrane signaling receptor activity	2
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
G protein-coupled receptor activity	1
signal transduction	1
sensory perception of chemical stimulus	1
sensory perception of smell	1
detection of chemical stimulus involved in sensory perception	1
G protein-coupled receptor signaling pathway	1
detection of chemical stimulus involved in sensory perception of smell	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

200 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR2AP1	CYP27C1	Q4G0S4	433
OR2AP1	KLHL10	Q6JEL2	381
OR2AP1	NME8	Q8N427	366
OR2AP1	GNG8	Q9UK08	350
OR2AP1	CNGA2	Q16280	321
OR2AP1	SLC39A5	Q6ZMH5	320
OR2AP1	GNG13	Q9P2W3	316
OR2AP1	DNAJC18	Q9H819	310
OR2AP1	KRTAP9-1	A8MXZ3	300
OR2AP1	ANO2	Q9NQ90	281
OR2AP1	APOF	Q13790	274
OR2AP1	RXFP2	Q8WXD0	264
OR2AP1	GNAL	P38405	260
OR2AP1	GNGT2	O14610	259
OR2AP1	KRTAP9-2	Q9BYQ4	247

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A6NDH6, A6NDL8, A6NET4, A6NHG9, A6NKK0, A6NMS3, P0DN80, P23268, P34982, P35898, Q60887, Q60892, Q7TRF3, Q7TS48, Q8NG80, Q8NG85, Q8NGA0, Q8NGE2, Q8NGF7, Q8NGI8, Q8NGL4, Q8NGS5, Q8NGU1, Q8NGU2, Q8NGV6, Q8NGV7, Q8NGY2, Q8NGY6, Q8NGY9, Q8NH16, Q8NH92, Q8NHB7, Q8NHB8, Q8NHC5, Q8NHC6, Q8NHC7, Q8VEX5, Q8VEX6, Q8VF13, Q8VFB9

Diamond homologs: A6NCV1, A6NDL8, A6NF89, A6NIJ9, A6NJZ3, A6NL08, A6NL26, A6NM76, O76001, O76002, O76100, O95007, P0C623, P0C626, P23266, P23267, P23272, P23274, P30953, P30955, P34985, P58173, P59922, P70526, Q13606, Q5TZ20, Q60882, Q60890, Q6UXT6, Q7TQQ0, Q7Z3T1, Q8N146, Q8N148, Q8N162, Q8N628, Q8NGA1, Q8NGC5, Q8NGE1, Q8NGE2, Q8NGE5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

0 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

273 predictions. Top by Δscore:

Variant	Effect	Δscore
12:55574672:G:T	donor_gain	0.6900
12:55575166:G:T	donor_gain	0.6700
12:55574671:G:GT	donor_gain	0.6600
12:55575166:G:GT	donor_gain	0.6600
12:55574678:GA:G	donor_gain	0.6300
12:55574680:G:GG	donor_gain	0.6300
12:55575142:T:TA	acceptor_gain	0.6300
12:55575164:C:CA	acceptor_gain	0.6300
12:55575032:G:GA	donor_gain	0.6000
12:55574648:GGTCC:G	donor_gain	0.5900
12:55574679:A:AG	donor_gain	0.5900
12:55574895:A:G	donor_gain	0.5900
12:55575110:G:GT	donor_gain	0.5900
12:55575225:G:GT	donor_gain	0.5800
12:55574708:G:GG	donor_gain	0.5600
12:55575142:T:G	acceptor_gain	0.5600
12:55575292:AACAG:A	donor_loss	0.5500
12:55575293:ACAGG:A	donor_loss	0.5500
12:55575294:CAG:C	donor_loss	0.5500
12:55575295:AG:A	donor_loss	0.5500
12:55575296:GG:G	donor_loss	0.5500
12:55575297:GTAAA:G	donor_loss	0.5500
12:55574774:C:G	donor_gain	0.5400
12:55575044:GCT:G	donor_gain	0.5400
12:55575225:G:T	donor_gain	0.5400
12:55574687:C:G	donor_gain	0.5300
12:55574707:A:AG	donor_gain	0.5300
12:55574907:GACT:G	donor_gain	0.5300
12:55575031:T:TA	donor_gain	0.5300
12:55575045:C:CG	donor_gain	0.5300

AlphaMissense

2038 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:55575168:A:C	S252R	0.951
12:55575170:C:A	S252R	0.951
12:55575170:C:G	S252R	0.951
12:55574442:T:C	F10L	0.942
12:55574444:T:A	F10L	0.942
12:55574444:T:G	F10L	0.942
12:55574910:T:C	F166L	0.928
12:55574912:T:A	F166L	0.928
12:55574912:T:G	F166L	0.928
12:55574742:T:C	F110L	0.912
12:55574744:T:A	F110L	0.912
12:55574744:T:G	F110L	0.912
12:55574520:A:C	S36R	0.911
12:55574522:C:A	S36R	0.911
12:55574522:C:G	S36R	0.911
12:55574443:T:C	F10S	0.893
12:55574773:G:C	R120P	0.865
12:55574853:T:A	W147R	0.858
12:55574853:T:C	W147R	0.858
12:55574943:T:A	C177S	0.858
12:55574944:G:C	C177S	0.858
12:55575120:T:C	F236L	0.853
12:55575122:T:A	F236L	0.853
12:55575122:T:G	F236L	0.853
12:55574443:T:G	F10C	0.835
12:55574771:C:A	D119E	0.833
12:55574771:C:G	D119E	0.833
12:55574697:T:A	C95S	0.831
12:55574698:G:C	C95S	0.831
12:55574697:T:C	C95R	0.824

dbSNP variants (sampled 300 via entrez): RS1000220351 (12:55572401 CA>C,CAA), RS1001586695 (12:55572937 C>T), RS1001675392 (12:55572622 G>A,C), RS1001931031 (12:55572754 A>G), RS1003210584 (12:55571633 T>C), RS1004374720 (12:55575995 A>G), RS1004616964 (12:55573917 A>C), RS1004737175 (12:55571824 A>T), RS1005220930 (12:55571361 G>A,C), RS1005273190 (12:55571568 G>A), RS1006221305 (12:55573767 G>A), RS1006563806 (12:55575813 A>T), RS1006626050 (12:55576079 C>T), RS1006682416 (12:55573998 C>T), RS1007722959 (12:55574109 T>G)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST010396_54	Gut microbiota (bacterial taxa, hurdle binary method)	8.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007874	gut microbiome measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

2 total (human), top 2 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Resveratrol	affects cotreatment, decreases expression	1
Copper	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.